Search

Abstract Background Prader-Willi syndrome (PWS) is a rare genetic neurodevelopmental disorder. Individuals with PWS face a range of cognitive, behavioral, and emotional challenges that require comprehensive and lifelong care, posing significant demands on their caregivers. The study is not only aimed to assess the psychological conditions of caregivers of adult subjects with PWS focusing on psychological distress and coping, but also to shed light on a crucial yet often overlooked aspect of healthcare. This study aims to compare the psychological well-being of individuals with PWS and their caregivers, providing valuable insights that can potentially improve the quality of care for these individuals. The sample recruited at the Division of Auxology, IRCCS Istituto Auxologico Italiano, was composed of 30 adult subjects with PWS (11 men and 19 women; mean age ± SD: 36.4 ± 10.31 years; mean Body Mass Index (BMI): 35.7 ± 8.92: kg/m2) and their caregivers (10 men and 20 women). To assess the psychological condition of caregivers, the Italian-validated versions of the Depression Anxiety and Stress Scale (DASS-21) and the Coping Orientation to the Problems Experiences (COPE) were used, while to assess the psychological well-being of individuals with PWS and their caregivers, the Italian validated version of the Psychological General Well-Being Index (PGWBI) was used. Results Depression (p

IntroductionPrader-Willi syndrome (PWS) is a rare disease, which shows a peculiar clinical phenotype, including obesity, which is different from essential obesity (EOB). Metabolomics might represent a valuable tool to reveal the biochemical mechanisms/pathways underlying clinical differences between PWS and EOB. The aim of the present (case-control, retrospective) study was to determine the metabolomic profile that characterizes PWS compared to EOB.MethodsA validated liquid chromatography-tandem mass spectrometry (LC-MS/MS) targeted metabolomic approach was used to measure a total of 188 endogenous metabolites in plasma samples of 32 patients with PWS (F/M = 23/9; age: 31.6 ± 9.2 years; body mass index [BMI]: 42.1 ± 7.0 kg/m2), compared to a sex-, age- and BMI-matched group of patients with EOB (F/M = 23/9; age: 31.4 ± 6.9 years; BMI: 43.5 ± 3.5 kg/m2).ResultsBody composition in PWS was different when compared to EOB, with increased fat mass and decreased fat-free mass. Glycemia and HDL cholesterol were higher in patients with PWS than in those with EOB, while insulinemia was lower, as well as heart rate. Resting energy expenditure was lower in the group with PWS than in the one with EOB, a difference that was missed after fat-free mass correction. Carrying out a series of Tobit multivariable linear regressions, adjusted for sex, diastolic blood pressure, and C reactive protein, a total of 28 metabolites was found to be associated with PWS (vs. non-PWS, i.e., EOB), including 9 phosphatidylcholines (PCs) ae, 5 PCs aa, all PCs aa, 7 lysoPCs a, all lysoPCs, 4 acetylcarnitines, and 1 sphingomyelin, all of which were higher in PWS than EOB.ConclusionsPWS exhibits a specific metabolomic profile when compared to EOB, suggesting a different regulation of some biochemical pathways, fundamentally related to lipid metabolism.

Abstract Pediatric obesity requires early targeted interventions consisting mainly of a low-calorie diet prescribed based on resting energy expenditure (REE), often estimated through predictive equations. The aim of this study was to define the prevalence of "hypo-", "normo-" and "hypermetabolic" in a large cohort of children and adolescents with obesity by comparing measured and estimated REE and to evaluate the characteristics related to these metabolic statuses in both males and females. The study population was divided into the three subgroups by comparing REE measured using indirect calorimetry and estimated using the Molnar equation, and subsequently analyzed. The majority of the participants (60.6%) were normometabolic, 25.5% hypermetabolic and 13.9% hypometabolic. No significant differences in age, Tanner stage, systolic blood pressure, or the presence of metabolic syndrome were found. However, the hypermetabolic subgroup was significantly lighter, shorter, with lower hip and waist circumferences, had a greater amount of fat-free mass and lower fat mass, significantly lower diastolic blood pressure, and a significantly higher frequency of non-alcoholic liver steatosis. Pediatric obesity is more associated with normal or increased REE than with a hypometabolic condition, suggesting that estimation of energy expenditure with predictive equations is still inadequate for prescribing the appropriate diet plan.

IntroductionChildhood obesity is associated with poor psychological adjustment. Severely impacts the psychological adjustment of young patients. To assess the psychological functioning of children and adolescents, several questionnaires have been proposed so far. Although the Strengths and Difficulties Questionnaire (SDQ) is one of the most well-used tools, its application in obesity research is scarce. The study is aimed at assessing the psychological profile of a sample of Italian children and adolescents seeking an in-hospital multidisciplinary body weight reduction program for obesity, via SDQ.MethodsOne hundred and fourteen consecutive Italian children and adolescents with obesity (43 males/71 females, age range: 11–17 years, mean age ± SD: 15.1 ± 1.66, body mass index-BMI ± SD: 37.4 ± 6.13 kg/m2), were recruited at the Division of Auxology, Istituto Auxologico Italiano IRCCS, Piancavallo (VB).ResultsObese Females reported worse conditions of emotional symptoms (t = 5.48; p < 0.001) and peer problems (t = 2.34; p = 0.021), as well as higher which were associated with greater scores of pro-social behaviors than obese males (t = 3.07; p = 0.003). The total difficulties score (t = 4.00; p < 0.001) and the total impact score (t = 4.53; p < 0.001) were significantly higher in females than males. No statistically significant differences in SDQ variables were found in relation to the degree of obesity (BMI SDS: 2–2.99; BMI SDS: > 3).DiscussionThese findings can contribute to understand the psychological condition of adolescents with obesity in a better way and also to develop effective interventions for the treatment of pediatric obesity which not only take into account the medical and physical aspects but also the emotional and social difficulties expressed by adolescents with obesity.

Abstract Metabolic syndrome (MetS) associated with obesity is a pathological condition increasing worldwide. Recent studies have demonstrated that the neutrophil to lymphocyte ratio (NLR) can be successfully used to stage MetS in obese adults. The aim of the study was to evaluate NLR values in 552 children/adolescents (M 219, F 333; 14.8 [12.9–16.3] years) and 231 adults (M 88, F 143; 52.3 [36.4–63.3] years) with morbid obesity, subdivided into subgroups according with the presence or absence of MetS. Adult patients with obesity showed a higher prevalence of MetS compared to the pediatric population (71% vs 26%), associated with a greater number of subjects with 3 and 4–5 altered components for MetS. NLR was higher (P-value = 0.041) in adults with MetS compared with those without. NLR values also positively correlated with the severity grade of the syndrome (P-value = 0.032). By contrast, in pediatric subjects with obesity with MetS, NLR values were comparable with those recorded in subjects without MetS (P-value = 0.861), no correlation being found with MetS severity (P-value = 0.441). Our study confirms the importance of NLR as an inflammatory indicator associated with MetS in adult subjects with severe obesity, while it excludes a similar role in children/adolescents.

IntroductionPrader-Willi syndrome (PWS) is a rare genetic disorder characterized by loss of expression of paternal chromosome 15q11.2-q13 genes. Individuals with PWS exhibit unique physical, endocrine, and metabolic traits associated with severe obesity. Identifying liver steatosis in PWS is challenging, despite its lower prevalence compared to non-syndromic obesity. Reliable biomarkers are crucial for the early detection and management of this condition associated with the complex metabolic profile and cardiovascular risks in PWS.MethodsCirculating proteome profiling was conducted in 29 individuals with PWS (15 with steatosis, 14 without) using the Olink Target 96 metabolism and cardiometabolic panels. Correlation analysis was performed to identify the association between protein biomarkes and clinical variables, while the gene enrichment analysis was conducted to identify pathways linked to deregulated proteins. Receiver operating characteristic (ROC) curves assessed the discriminatory power of circulating protein while a logistic regression model evaluated the potential of a combination of protein biomarkers.ResultsCDH2, CTSO, QDPR, CANT1, ALDH1A1, TYMP, ADGRE, KYAT1, MCFD, SEMA3F, THOP1, TXND5, SSC4D, FBP1, and CES1 exhibited a significant differential expression in liver steatosis, with a progressive increase from grade 1 to grade 3. FBP1, CES1, and QDPR showed predominant liver expression. The logistic regression model, -34.19 + 0.85 * QDPR*QDPR + 0.75 * CANT1*TYMP - 0.46 * THOP1*ALDH1A, achieved an AUC of 0.93 (95% CI: 0.63-0.99), with a sensitivity of 93% and specificity of 80% for detecting steatosis in individuals with PWS. These biomarkers showed strong correlations among themselves and were involved in an interconnected network of 62 nodes, related to seven metabolic pathways. They were also significantly associated with cholesterol, LDL, triglycerides, transaminases, HbA1c, FLI, APRI, and HOMA, and showed a negative correlation with HDL levels.ConclusionThe biomarkers identified in this study offer the potential for improved patient stratification and personalized therapeutic protocols.

Abstract This study aimed to evaluate the responsiveness of the Italian version of the Paediatric Quality of Life Inventory Multidimensional Fatigue Scale (PedsQL-MFS) to changes in BMI, fatigue and depressive symptoms in adult inpatients with obesity. 198 adults (81% female, mean age = 44.7 years) with obesity completed the PedsQL-MFS, the Fatigue Severity Scale (FFS) and the Centre for Epidemiologic Studies Depression Scale (CESD) before and after completing a 3-week body weight reduction program. Internal responsiveness was measured via paired t-tests, standardized mean response (SMR) and Glass’s delta (d). Changes in FFS, CESD and BMI were used as anchors to categorize participants as “improved”, “unchanged” or “deteriorated”. External Responsiveness was assessed by comparing mean post-intervention PedsQL-MFS scores across change groups, adjusting for pre-intervention PedsQL-MFS scores and in area-under-curve (AUC) analysis. PedsQL-MFS Total, Sleep/Rest Fatigue and Cognitive Fatigue scores demonstrated significant reductions in response to an established body weight reduction program. Post-intervention PedsQL-MFS scale scores were lower among those who had improved on the CESD and FSS than among those whose CESD and FSS scores had not significantly changed. There was no difference in PedsQL-MFS scale scores according to whether participants had reduced their BMI by at least 5%. AUC analyses indicated that change in PedsQL-MFS scores was somewhat more predictive of improvement in CESD than FSS scores. The Italian version of the PedsQL-MFS demonstrated both internal and external responsiveness. It appeared more sensitive to improvement than deterioration in fatigue symptoms and its sensitivity to deterioration in depressive symptoms and weight loss could not be evaluated in the present study as there was no reliable deterioration in CESD scores and weight loss was modest. Future studies should include a control group to assess the sensitivity of the PedsQL-MFS more thoroughly.

Abstract Prader–Willi syndrome (PWS), a multisystemic disorder caused by lack of expression of genes on the paternally inherited chromosome 15q11.2-q13 region, is characterized by hyperphagia and childhood-onset morbid obesity, A retrospective cohort study of 60 PWS patients, 38 females and 22 males, undergoing a 6-year rehabilitation program was analysed. Mean age at the time of first admission was 27 ± 7 years, body weight (BW) was 97 kg ± 29 kg and height was 1.53 ± 0.09 m. Twenty-four patients (40%) showed BW loss after 6 years of follow-up, seventeen (28%) remained stable and nineteen (32%) gained BW. Responsiveness in term of BW reduction was less frequent in patients with the UPD karyotype, karyotype del15 being more frequent among responsive patients. Furthermore, responsive PWS subjects had a higher BMI (47 vs. 36 kg/m2), waist (123 vs. 106 cm) and hip (136 vs. 118 cm) circumferences than non-responsive at the time of first hospitalization. Baseline body composition and metabolic parameters did not differentiate between responsive and non-responsive patients. Given the rarity of PWS and relative lack of studies, these results can be considered relevant because based on a relatively large number of PWS patients followed up for a long term period.

IntroductionObesity represents one of the most serious problems of public health affecting elderly populations in an increasingly relevant way. The aim of the current study was to assess the effects of a 3-week in-hospital multidisciplinary body weight reduction program (BWRP) in a sample of elderly patients with obesity on reducing body mass index (BMI), improving fatigue, muscle performance, and psychological well-being.MethodsTwo hundred and thirty-seven consecutive elderly in-patients with obesity (males = 84; females = 153; age range = 65–86 yrs.; mean BMI = 43.7) undergoing a three-week multidisciplinary BWRP participated in the study. Data on BMI, fatiguability (measured with the Fatigue Severity Scale, FSS), muscle performance (evaluated with the Stair Climbing Test, SCT), and psychological well-being (assessed with the Psychological General Well- Being Index, PGWBI) were collected before and after the intervention.ResultsResults showed that BWRP was capable to reduce BMI [F(1.00, 235.00) = 1226.8; p

Background: Prader-Willi syndrome (PWS) is a rare genomic imprinting disorder associated to a complex neurodevelopmental phenotype and a distinctive facial appearance. The study investigated the relationships between the quantitative facial dysmorphism in PWS and clinical and biochemical markers of the disease and its treatment. Methods: Facial images of 15 Caucasian adult individuals with PWS (8 males, 42 ± 5 years; 7 females, 37 ± 8 years; BMI 38.87 ± 8.92 kg/m2) were acquired through stereophotogrammetry. From the 3D coordinates of 38 landmarks, linear distances and angles were calculated; they were expressed as z-score values by referring to 403 healthy subjects matched for age and sex and compared by Student’s t-test with Bonferroni correction for multiple testing. Patients underwent auxological and biochemical assessment of endocrine/metabolic dysfunction and nocturnal respiratory function. An exploratory correlation analysis was performed to investigate their associations with the facial phenotype; uncorrected p-values were used. Results and Conclusions: Individuals with PWS showed decreased bifrontal diameter, facial depths, palpebral fissures, mandibular ramus length, lower vermillion height, and modified relative position of exocanthia and nasion. Since these characteristics did not show any associations with clinical and biochemical markers of PWS, they could constitute robust distinctive facial features and contribute to the diagnosis of the disorder. Individuals with PWS showed also a larger mandibular width with smaller gonial angles, thinner upper vermillion, greater inclination of the orbit relative to the Frankfurt plane, and a smaller angle of the auricles versus the facial midplane. Relationships between these facial anthropometric features and body composition, glucidic metabolism indexes, nocturnal hypoxemia episodes, or duration of GH treatment were found, suggesting their potentially useful role in the clinical monitoring and management of the disease. However, they need to be confirmed by subsequent dedicated studies.

In the obese population, the prescription of a proper diet plan is essential to ensure an appropriate and gradual weight loss, reduce the risk of weight cycling and favor an overall improvement of health conditions. Energy needs are commonly estimated using predictive equations, even if their accuracy is still debated, especially in severely obese subjects. In the present study, 850 severely obese females admitted to our hospital for a multidisciplinary body weight reduction program (BWRP) were divided into three subgroups, “hypo-,” “normo-,” and “hyper-metabolic,” based on the comparison between estimated resting energy expenditure (eREE, using the Mifflin equation) and measured REE (mREE, using indirect calorimetry). The majority of this study population was considered normo-metabolic (59.4%, mREE between 90 and 110% of eREE), 32.6% was hyper-metabolic (mREE > 110% of eREE) and only 8% was hypo-metabolic (mREE < 90% of eREE). The three subgroups were evaluated before and after a 3-week BWRP, entailing energy restricted diet, adapted physical activity, psychological counseling and nutritional education. Since the diet plan during the BWRP consisted of a 30% reduction of total energy expenditure (obtained by multiplying mREE by the physical activity level), each subgroup responded positively to the BWRP independently from the difference between mREE and eREE, the extent of BMI reduction and clinical, metabolic and physical amelioration being comparable among the three subgroups. By contrast, the restriction of the energy intake based on eREE during the BWRP would have determined a slighter caloric restriction in the hypo-metabolic subgroup, thus determining a smaller body weight reduction, and, by contrast, a more marked caloric restriction in the hyper-metabolic subgroup, probably difficult to be tolerated and maintained for prolonged period. In conclusion, the percentage of subjects with “slow metabolism” in a Caucasian female obese population seeking hospitalization for a BWRP is actually lower than expected, finding controverting the common notion that obesity is mostly due to reduced REE. The high percentage (40%) of inadequate eREE in these female obese populations further underlines the absolute need to include the measurement of REE in the clinical practice for the correct prescription of energy intake in severely obese populations.

Background. Metabolic syndrome is a combination of cardiovascular risk factors (i.e., visceral obesity, dyslipidaemia, glucose intolerance, and hypertension), which entails critical issues in terms of medical management and public health. Methods. The aim of the present cross-sectional study was to investigate the age-related changes of the single IDF (International Diabetes Federation) diagnostic criteria for metabolic syndrome (waist circumference, WC; high-density lipoprotein cholesterol, HDL-C; triglycerides; glucose; systolic and diastolic blood pressure, SBP and DBP) in a large population of (Italian) obese women (n = 1.000; body mass index, BMI >30 kg/m2; age: 18–83 yrs), subdivided into two subgroups depending on the presence (n = 630) or absence (n = 370) of metabolic syndrome. Parallelly, the percentages of treatment with hypolipidaemic drugs, hypoglycaemics, and antihypertensives and, among the treated subjects, of control of the underlying condition in accordance with the cut-offs of IDF criteria for dyslipidaemia, hyperglycaemia, and hypertension were determined over six age ranges (i.e., 18–30, 31–40, 41–50, 51–60, 61–70, and > 70 yrs). Results. The prevalence of metabolic syndrome increased with advancing age. In the subgroup with metabolic syndrome, an age-dependent increase in HDL-C, glycaemia, and SBP occurred, while the visceral adiposity was stable. In the same subgroup, triglycerides and DBP decreased age-dependently. In the subgroup without metabolic syndrome, an age-dependent increase in WC, HDL-C, glycaemia, SBP, and DBP was observed. A progressive age-dependent increase in the percentage of patients pharmacologically treated for the cardiometabolic abnormalities was detected in patients with metabolic syndrome, a similar trend being also observed in patients without metabolic syndrome only for the antihypertensives. A clear-cut disproportion between treated versus adequately controlled women (with pharmacotherapy) was detected in the whole population. Conclusions. At least in an Italian context of obese females, the age-dependent worsening of glycaemia and BP exerts a fundamental pathophysiological role in the progressive increase of metabolic syndrome with advancing age, which appears to be not adequately treated in a large part of obese subjects. The results of the present study might be useful for public health decision-makers for programming future more extensive and aggressive non-pharmacological and pharmacological interventions in the obese population.

Los gases arteriales son herramientas fundamentales para evaluar objetivamente a pacientes con patologías agudas y crónicas, dado que proporcionan información sobre los índices de oxigenación, ventilación, equilibrio ácido-base y el suministro de oxígeno a nivel celular. Interpretarlos adecuadamente tiene gran importancia clínica, dado que influye en la toma de decisiones permite evaluar la respuesta a intervenciones terapéuticas. Este artículo tiene como objetivo presentar al lector los conceptos básicos de la fisiología del intercambio gaseoso, los trastornos ácido-base más comunes y una interpretación práctica de los gases arteriales. Se utiliza una combinación de ilustraciones gráficas, tablas y algoritmos para facilitar la comprensión y el abordaje clínico de pacientes con alteraciones respiratorias y metabólicas.

El examen de rutina de los donantes de órganos para detectar la infección por el virus de la inmunodeficiencia humana (HIV) ha hecho que la transmisión del virus mediante el trasplante de órganos sea poco común. Sin embargo, a pesar de las pruebas de detección de rutina, la transmisión del HIV continúa siendo un riesgo del trasplante de órganos ya que, a diferencia de los tejidos, los órganos sólidos no se pueden procesar, desinfectar, ni modificar para inactivar patógenos infecciosos. A continuación, se describe un caso de posible transmisión de HIV por trasplante de órganos de un donante previamente seronegativo a dos de sus receptores.

En este estudio se logró identificar los factores socioafectivos que inciden en la construcción del self en la niñez y la funcionalidad familiar, en los municipios de Soacha y San Antonio de Tequendama en el departamento de Cundinamarca, Colombia, durante 2023, desde un enfoque psicodinámico. La metodología empleada fue de carácter cuantitativo, con un alcance descriptivo, donde se aplicó el instrumento test de funcionamiento familiar (FFSIL). La muestra estuvo conformada por 146 padres, madres y cuidadores, seleccionada por muestreo probabilístico-aleatorio simple, se tuvieron cuatro escenarios diferentes como la Institución Educativa Compartir, con una muestra de 39 personas; la comunidad del barrio Ciudad Verde, con 40 personas; el estadio municipal Luis Carlos Galán con el programa de Exploración Motora del IMRDS (Institución Municipal Para la Recreación y el Deporte de Soacha), con 20 personas del municipio de Soacha, Cundinamarca y la Institución Educativa Departamental Mariano Santamaría del municipio de San Antonio de Tequendama, con 47 personas. Los resultados permitieron identificar la funcionalidad familiar a través de la cohesión, armonía, comunicación, permeabilidad, afectividad, roles, adaptabilidad, etapas de desarrollo psicosocial, pautas de crianza y comunicación familiar en la niñez, demostrando un impacto en la dimensión afectiva.

Sensory marketing focuses on generating a positive experience for users through their senses, their past, their imagination or their emotions; and in tourist businesses such as coffee shops, which share the characteristics of a restaurant and a bar, it connects the tourist with the culture of the coffee families of the place visited. This research identifies the relationship between sensory marketing and purchase behaviour by assessing consumer needs and characteristics that are presented when purchasing a product in coffee shops in emerging economy countries. This is a quantitative, non-experimental, cross-sectional, correlational research, with a sample of 400 customers of coffee shops in Peru and Colombia under a probabilistic sampling, using a 33-item questionnaire for data collection and IBM SPSS as an instrument for quantitative data analysis. The results show a moderate and significant positive relationship of 0.576 in Peru and 0.419 in Colombia between sensory marketing and purchase behavior. It is also highlighted that for the Peruvian consumer, the management of the senses (50.2%) and pre-purchase moment (47%) are important, and for the Colombian consumer the management of emotions (71.3%) and post-purchase moment (67.9%) are important. It is concluded that there is a relationship between sensory marketing and purchase behavior in the coffee shops studied, so it is recommended to address sensory marketing strategies and emphasize the sensory experience during the consumer's purchase process, highlighting the culture of coffee families as a competitive advantage.

La contabilidad socio-ambiental, como sistema de información, funge de herramienta fundamental para medir y comunicar el impacto ambiental ocasionado a raíz de las actividades desarrolladas por las industrias, entre otras organizaciones, promoviendo la toma de decisiones sostenibles y la conservación del medio ambiente; en tal sentido, las etapas para su implementación se convierten en pieza clave dentro del proceso. El objetivo del presente artículo es describir las etapas para la implementación de la contabilidad socio-ambiental en empresas industriales colombianas. La metodología utilizada para lograr el objetivo, consistió en un trabajo de investigación de tipo descriptivo, de fuente mixta: Documental y de campo; la búsqueda de información teórico-bibliográfica sobre la temática objeto de estudio, se realizó a través de bases de datos especializadas. Además, se recabó información a partir de encuesta realizada a contadores en las empresas industriales ubicadas en la zona industrial de Barranquilla-Colombia. Los resultados apuntan hacia la necesidad del logro de consenso entre los diferentes actores sociales, en función de la pertinencia de las etapas usadas en el proceso de implementación de contabilidad socio-ambiental. Se concluye que la ejecución de cada etapa posibilita la puesta en marcha de un sistema de información robusto que impacte positivamente los ecosistemas.

Abstract Background In Colombia and worldwide, breast cancer (BC) is the most frequently diagnosed neoplasia and the leading cause of death from cancer among women. Studies predominantly involve hereditary and familial cases, demonstrating a gap in the literature regarding the identification of germline mutations in unselected patients from Latin-America. Identification of pathogenic/likely pathogenic (P/LP) variants is important for shaping national genetic analysis policies, genetic counseling, and early detection strategies. The present study included 400 women with unselected breast cancer (BC), in whom we analyzed ten genes, using Whole Exome Sequencing (WES), know to confer risk for BC, with the aim of determining the genomic profile of previously unreported P/LP variants in the affected population. Additionally, Multiplex Ligation-dependent Probe Amplification (MLPA) was performed to identify Large Genomic Rearrangements (LGRs) in the BRCA1/2 genes. To ascertain the functional impact of a recurrent intronic variant (ATM c.5496 + 2_5496 + 5delTAAG), a minigene assay was conducted. Results We ascertained the frequency of P/LP germline variants in BRCA2 (2.5%), ATM (1.25%), BRCA1 (0.75%), PALB2 (0.50%), CHEK2 (0.50%), BARD1 (0.25%), and RAD51D (0.25%) genes in the population of study. P/LP variants account for 6% of the total population analyzed. No LGRs were detected in our study. We identified 1.75% of recurrent variants in BRCA2 and ATM genes. One of them corresponds to the ATM c.5496 + 2_5496 + 5delTAAG. Functional validation of this variant demonstrated a splicing alteration probably modifying the Pincer domain and subsequent protein structure. Conclusion This study described for the first time the genomic profile of ten risk genes in Colombian women with unselected BC. Our findings underscore the significance of population-based research, advocating the consideration of molecular testing in all women with cancer.

Objective: to assess the job satisfaction level, stressors and working conditions of nursing professionals in some Latin American countries during the COVID-19 pandemic. Methods: this is a cross-sectional study of nursing professionals working in hospital, primary care, educational, governmental, research, commercial and independent institutions. An online survey was carried out to assess satisfaction with the Font-Roja instrument, sociodemographic characteristics, stress factors and working conditions. Results: a total of 1,215 workers from Argentina, Colombia, Mexico, Ecuador and Panama participated. The overall satisfaction score was 81.5 (SD:11.6). There was less satisfaction in the dimensions of tension, pressure, extrinsic characteristics and monotony. Increased stress at work (84.3%), workload (81.3%), fear of SARS-CoV-2 (67.7%), uncertainty at work (51.2%) and salary reduction (20.4%) were reported. The work factors related to satisfaction were, as follows: job recommendation, mixed working hours, care work, increased stress, increased workload, salary reduction and purchase of protective equipment. Conclusion: the aspects of job satisfaction most affected during the pandemic were pressure, tension, lack of independence and monotony at work; this satisfaction was reduced due to increased stress and workload, the acquisition of personal protective equipment and a reduction in salary.

IntroductionWater scarcity is a significant global challenge that frequently manifests as inadequate water supply for domestic purposes. However, domestic water insecurity can occur even in regions where water is naturally abundant. Despite Colombia’s plentiful surface water resources, rural and peri-urban communities often experience limited access to water. Existing water supply systems are frequently susceptible to poor maintenance, particularly in remote areas where much of the infrastructure remains outdated. Consequently, water is often lost through leaks or unintentional non-domestic use. Although a regulatory framework for water usage exists, it does not consistently translate into effective implementation.MethodologyBased on an extensive survey of approximately 1000 households in four rural and four peri-urban communities in the Valle del Cauca Department, Colombia, we identified the factors underlying inefficient water supply and use. Perceived water use at the household level, based on self-reported time spent on various use types, such as bathing, and water supplied at the system level, was estimated.Results and discussionHousehold size, education level, age and occupation were found to be critical factors influencing end water use and water supply. This not only elucidates why water is supplied and used inefficiently in rural systems (e.g., due to non-domestic use), but also accounts for the variability of perceived water use within peri-urban systems. The water use perceived by households in the rural systems was statistically similar across the rural systems studied and was significantly lower than that in the peri-urban systems. Most rural systems exhibited very low ratios of perceived water use to water supplied, indicating that either water is lost in conveyance or that water is used for non-domestic purposes. Peri-urban users, who perceived to use more water than users in rural areas, were associated with younger and more educated households. Higher education levels were also associated with better financial capacity and technical ability to manage water systems; therefore, peri-urban systems were better managed.

Este estudio evaluó un programa de intervención destinado a fortalecer el desarrollo cognitivo, lingüístico, motriz y socioafectivo en niños de edad preescolar mediante la capacitación de padres en técnicas de lecto-escritura y habilidades pedagógicas. Los resultados mostraron una efectividad general del programa, aunque con variabilidad significativa en el rendimiento entre los grupos evaluados. Específicamente, el logro en las habilidades motrices y socioafectivas varió, con algunos grupos alcanzando solo el 35.56% en desarrollo motriz, mientras otros llegaron hasta el 50.62%. Estas diferencias subrayan la necesidad de adaptar y mejorar la implementación del programa para garantizar la efectividad y consistencia en todos los grupos. El análisis de los indicadores de logro final destacó desafíos particulares en las áreas menos desarrolladas y resaltó la importancia de integrar actividades que promuevan habilidades socioemocionales y motrices de manera más efectiva. La alta disposición de los padres para participar en futuras intervenciones (más del 85% expresaron interés) refleja el valor percibido del programa y sugiere la viabilidad de proyectos de seguimiento que continúen apoyando el desarrollo infantil de manera prolongada. Este estudio enfatiza la importancia de personalizar los programas educativos según las necesidades individuales de cada niño y realizar ajustes continuos basados en evaluaciones detalladas para optimizar la educación temprana.

Introducción: La pandemia de COVID-19 ha traído consecuencias en la salud mental de la población universitaria de enfermería. Objetivo: Identificar los factores relacionados con las alteraciones en la salud mental de universitarios de los programas de enfermería durante la pandemia por COVID-19. Materiales y Métodos: Estudio transversal multicéntrico, en estudiantes de enfermería de dos universidades colombianas y una española durante la pandemia por COVID-19. Se aplicó una encuesta por internet sobre aspectos sociodemográficos, económicos y personales, junto con los cuestionarios de salud mental GHQ-12, APGAR familiar, apoyo social MOS y estrés postraumático IES-R. Se estimó la prevalencia de alteraciones de la salud mental y sus diferencias según las características de los estudiantes, también se obtuvieron razones de prevalencia. Resultados: En 302 estudiantes se encontró una prevalencia de alteraciones mentales de importancia clínica de 61,92%, de disfunción familiar en 61,58%, con bajo apoyo social en 9,33%; además, presentaron síntomas de estrés postraumático (44,46%), sufrieron dificultades económicas (52,65%), académicas (54,61%) y personales (69,87%). Adicionalmente, estas alteraciones fueron más prevalentes ante una disfuncionalidad familiar moderada (RP=1,77 IC95%=1,15;2,73), ante la dificultad para pagar alimentos (RP=1,35 IC95%=1,09;1,67), la pérdida de la pareja (RP=1,27 IC95%=1,02;1,59) y ante síntomas de estrés postraumático (RP=1,69 IC95%=1,28;2,24). Discusión: El sufrimiento psicológico y sus factores relacionados encontrados en los estudiantes de enfermería concuerdan con otros hallazgos en la literatura. Conclusión: Una importante proporción de estudiantes de enfermería estuvieron afectados en su salud mental durante la pandemia, mostrando una necesidad de estrategias sistemáticas, continuas e integrales por parte de las instituciones formativas.

La pregunta que guía la presente investigación es si los principios de la filosofía del buen vivir ayudan a pensar las ciudades latinoamericanas como escenarios de disputa por los sentidos en torno a cómo habitarlas y cuál es el rol que juegan las pedagogías emancipadoras en este proceso. De ahí que el propósito del artículo es comprender la noción de buen vivir urbano a partir de resignificar las categorías de territorio, territorialidad y sentido de lugar, recurriendo para ello a las ontologías políticas relacionales y las contribuciones de las pedagogías emancipadoras en América Latina. En términos metodológicos se acude al análisis interdiscursivo en el entendido de las diversas voces que entran en diálogo y las propias prácticas investigativas, para así aportar a una interpretación basada en un tipo de conocimiento que se reconozca como situado. Entre los resultados se aborda el buen vivir como filosofía del sur, tomando como referente las contribuciones del pensamiento ancestral de Abya Yala, así como diversas expresiones que surgen de procesos organizativos y de los movimientos sociales. En conclusión, el buen vivir en clave de lo urbano, allana el camino que reposiciona la comprensión del territorio en la praxis de las acciones comunitarias.

Neurogenic lower urinary tract dysfunction (NLUTD) encompasses a broad spectrum of neurological conditions affecting the lower urinary tract. Managing NLUTD requires a tailored approach focused on preserving kidney function and enhancing patients’ quality of life. Clinical guidelines provide valuable guidance for healthcare professionals, but discrepancies in recommendations arise among other factors due to limited high-quality clinical evidence. Prominent guidelines from organisations like the International Consultation of Incontinence, the European Association of Urology, the American Urological Association, and the National Institute for Health and Care Excellence offer varying recommendations for NLUTD management. This study reviews and summarizes the recommendations for conservative, pharmacological, and surgical management options across these guidelines.

Seedling recruitment is a key process of plant regeneration that often depends on plant functional traits, such as seed size. To optimize forest restoration efforts, we need to better understand how seedling recruitment of different seed sizes varies along environmental gradients with strong variation in abiotic and biotic factors. To understand these interacting effects, we conducted a sowing experiment with different-sized seeds in forests and pastures in the tropical mountains of southern Ecuador. We quantified seedling recruitment in relation to temperature, soil moisture and biotic pressures. We sowed seeds of five tree species of varying seed size at three elevations (1000, 2000 and 3000 m a.s.l.) in primary forest and pastures. We tested (1) how habitat type influences the recruitment of seedlings belonging to three small- and two large-seeded species, and (2) how abiotic and biotic factors limit seedling recruitment of species with different seed sizes. We found that seedlings of the two large-seeded species recruited better than seedlings of the three small-seeded species, but only in the forest habitat. Seedling recruitment of large seeds was primarily limited by high surface temperature, which explains lower recruitment of large seeds in pastures compared to forests. Our study shows that seed size can be a key trait mediating variability in seedling recruitment in tropical ecosystems. We conclude that restoration measures should aim to mitigate extreme temperatures in tropical pastures to aid the natural regeneration of large-seeded tree species.

Introduction: In Colombia, 6,690 people died from road crashes in 2019; for this and the following two years, deaths from traffic crashes were the second cause of death due to external causes. Many of these deaths can be prevented by implementing cost-effective population-level measures such as the WHO11 WHO: World Health Organization.-established Vehicle Safety Standards22 VSS: Vehicle Safety Standards. (VSS). Our objective was to identify the perceptions of key stakeholders about the adoption and implementation of VSSs in the Colombian context. Methodology: Exploratory, descriptive and multimethod study, using analysis and information collection techniques, such as the design and application of semi-structured interviews to recognize the different perspectives, power resources, and characteristics of certain consumers regarding VSS in the Colombian context. The advertising offered in various media about VSS was described and analyzed; sources of information on the rights of consumers and stakeholders regarding this issue were analyzed. Results: Relevant and expectant critical actors regarding the implementation of VSS were identified. VSS advertising adapts to different media, sometimes making it difficult to display. We identified that the Colombian market prioritizes the price of vehicles over safety and luxury as the category most valued by consumers in vehicles purchased in Colombia. Some entities were found to have been sanctioned for misleading advertising and technical failures of the VSS. Conclusions: To reduce the road crash rate, Colombia must adopt international measures such as the standards of the United Nations World Forum for the Harmonization of Vehicle Regulations known as WP.29, which obliges States to improve the design, production, marketing, and distribution of safe vehicles. Some key players in the automotive industry are favorably disposed to adopting WP.29 due to the reduction in injuries and damage to the health of road users, even more so in the post-pandemic period that shows an increase in these events that impact public health.

En la actualidad, se puede centralizar la academia a la búsqueda de nuevas metodologías de enseñanza para recrear ambientes únicos, con ventajas como la versatilidad, adaptabilidad de los recursos y del tiempo, generando nuevas posibilidades de interacción, desarrollo y aprendizaje. Además, busca también trasladar el eje central del acto pedagógico desde el profesor hacia el estudiante, transformándolo en el responsable y protagonista de su propia formación académica. Desde la dinamización de nuevas pedagogías y modelos que invitan a centrarse en el estudiante, desde relaciones interestructurantes de experimentación y construcción colectiva de conocimiento; esto con el objeto de lograr que los actores del proceso educativo trabajen con un enfoque de aprendizaje significativo que les permita promover avances notables en la construcción del conocimiento. Un ejemplo de ello es la estrategia de Aula Invertida, la cual se resalta en esta revisión documental como un método de gran utilidad para que en mediación con el saber disciplinar en este caso la química, se convierta en una nueva posibilidad de interacción y aprendizaje en el acto educativo. Con resultados que reflejan un trabajo más independiente, seguro y con mayor apropiación de los contenidos gracias a la disponibilidad de nuevos e innovadores recursos tecnológicos; además se evidencia, la importancia de promover en la educación estos ambientes virtuales donde implementando herramientas TIC para la educación, se da respuesta al desafío que representan constantemente los entornos del aula educativa para las nuevas generaciones de estudiantes.

La enfermedad celiaca (EC) es una enteropatía inmunomediada con compromiso sistémico en individuos genéticamente susceptibles, causada por una respuesta inmunitaria al gluten ingerido. La única terapia para la EC es una dieta libre de gluten (DLG). Se presenta el caso de una mujer de 55 años que acudió al servicio de urgencias por saciedad precoz, intolerancia a las leguminosas, distensión abdominal y diarrea crónica, además de parestesias en los miembros superiores e inferiores. Adicionalmente, describió una disminución de la clase funcional por disnea y pérdida involuntaria de aproximadamente 20 kilogramos de peso en los últimos 2 años. Se realizó una esofagogastroduodenoscopia con protocolo para EC, junto con serología para la misma, lo cual confirmó la sospecha diagnóstica inicial. Se indicó tratamiento con dieta libre de gluten y suplementación nutricional, que produjo una mejoría significativa del cuadro clínico.

Este estudio propone estrategias de mejora continua y sostenibilidad para la Planta Tratamiento de Agua Potable (ptap) de la Institución Universitaria Antonio José Camacho (uniajc), utilizando herramientas de Lean Manufacturing. El objetivo es impactar positivamente en variables críticas como el desperdicio, el consumo de agua, el consumo energético, la capacidad de la planta y la calidad del agua tratada. Se realizó una caracterización completa de la planta y se identificaron los problemas existentes. Mediante un análisis detallado se determinó que el desperdicio de agua y la calidad del producto eran los principales desafíos por abordar. Se aplicaron herramientas como el diagrama de proceso, Jidoka, Value Stream Mapping, diagrama de causa raíz, amef, control visual, Andon y mantenimiento autónomo para proponer soluciones y mejorar la eficiencia de la planta, reduciendo los costos operativos y los problemas ambientales asociados, permitiendo a la planta adaptarse a las crecientes demandas futuras. Además, se evaluó el consumo energético y se propusieron medidas para reducirlo. Los resultados de la implementación de estas mejoras muestran un beneficio claro en términos de costos y bienestar para la Universidad y sus estudiantes.

Contextualización: El cultivo de arroz (Oryza sativa L.), en todo su proceso vegetativo genera en el suelo aumento de la densidad aparente y de la resistencia a la penetración. El componente más representativo de los costos de producción es el manejo, aun así, la preparación y adecuación de los terrenos puede alcanzar, y superar, el 20% de los costos. Vacío de conocimiento: Al ser un cultivo de alto rendimiento económico y estar poco tecnificado en la región, se busca la implementación de arados de conservación que aporten beneficios económicos y ambientales a la comunidad. Propósito: Con el afán de promover una producción y una agricultura más sostenible, se propuso evaluar las propiedades físicas del suelo y el rendimiento del cultivo de arroz, modificando la preparación convencional con rastra por el uso del cincel. Metodología: El área experimental conformada por una hectárea se dividió en parcelas experimentales, T1: Una pasada de cincel vibratorio, y T2: Dos pasadas de arado convencional (rastra), se evaluaron las propiedades físicas del suelo (Densidad Real, Densidad Aparente, Porosidad y Textura) y se realizó seguimiento fenológico al desarrollo del cultivo (Germinación, Máximo Macollamiento, Máximo Embuchamiento, Madurez y Cosecha). Las pruebas de suelo se realizaron antes y después de la labranza entre los 15 y 20 cm de profundidad. El análisis estadístico se realizó mediante Análisis de Varianza (ANOVA) y gráficamente, y el análisis tecno económico se realizó con base en la producción y el costo de operación entre los dos tipos de labranza. Resultados y conclusiones: Los resultados mostraron que después de la preparación del suelo la densidad aparente disminuyó en un 5,0% para T1 y 13,5% para T2; igualmente estos efectos conllevaron a que la porosidad aumentará 13,6% y 29,34%, respectivamente, y que los costos de producción fueran $1159,9 USD para T1 y 5,37% mayor para T2. Al finalizar se concluye que, al evaluar el rendimiento a la cosecha, no se presentaron diferencias significativas en la producción por efecto del mecanizado, pero se observó estadísticamente diferencia entre el costo de la labranza convencional y la reducida, siendo ésta última 148,9% más económica y menos agresiva para el suelo.

Este estudio cualitativo examina la relación entre la actividad física y la salud mental. A través de entrevistas semiestructuradas y grupos focales, se investigaron las experiencias y percepciones de 50 participantes que practican ejercicio regularmente. Los hallazgos revelan que la actividad física contribuye significativamente a la reducción de la ansiedad y la depresión, mejora el estado de ánimo y aumenta el bienestar general. Factores como la frecuencia, la intensidad y el tipo de ejercicio, así como el entorno en el que se realiza, juegan un papel crucial en los beneficios psicológicos. Además, la motivación intrínseca y el apoyo social se identificaron como elementos clave para mantener una práctica consistente. Las barreras para la actividad física, como la falta de tiempo y acceso a instalaciones, también fueron destacadas. Este estudio subraya la importancia de promover estilos de vida activos para mejorar la salud mental y proporciona información valiosa para diseñar intervenciones efectivas y políticas públicas.

Abstract In the seascape, species migrate between ecosystems to complete their life cycles, and such ontogenetic migrations create functional connections between ecosystems. Nevertheless, the scarcity of information on patch distribution, species life history and ecology limits its application in Marine Protected Areas (MPA) management. We use a potential connectivity network approach to analyze how Haemulon flavolineatum might move through a complex and diverse seascape by simulating part of its life cycle migrations among three ecosystems (reef, mangrove, and seagrass) in the MPA of Bahía Portete-Kaurrele (BPK), Colombia. We used available ecosystem cover maps to conduct habitat fragmentation analyses and evaluate structural connectivity in BPK using eight indices that describe ecosystem patches and how they are related. With published information on the H. flavolineatum home range and its ontogenetic migration distances, we estimated the potential functional connectivity (CONNECT and migration distances) between ecosystems by building bipartite graphs. The benthic habitat configuration of the BPK could allow Haemulon flavolineatum to complete at least two stages of its life cycle (stage 5 mangroves to reefs being more likely than stage 4 seagrass to mangroves). Ontogenetic migrations is possible since, patches of different ecosystems were highly intermixed (76%) rather than grouped (58%); reefs showed higher values of structural indices (patch area, largest patch, shape complexity, functional links) than mangrove (shortest distance to the nearest neighbor) and seagrass (representativeness); and juveniles migrate from mangroves to reef patches along the bay, but they could be isolated by distance when moving from particular seagrass to mangrove patches. Our methodological approach, which integrates ecological information (evidence-based ranges of species migration distances between habitat patches) and the seascape (spatial configuration of habitat patches and fragmentation) is novel for a marine fish species with ontogenetic migration to search for the likelihood of completing its life cycle stages. We discuss the need for ecological information on French grunts and the need to validate future models and scenarios.

Este artículo emprende una revisión del estado actual del ecosistema empresarial EdTech en Colombia, a través de una investigación exploratoria con enfoque descriptivo, centrándose en la pregunta: ¿existe una caracterización del ecosistema empresarial EdTech en Colombia? La metodología incluyó una revisión del estado del arte para proporcionar una visión contextualizada de la situación actual de la industria EdTech en Colombia, y la consulta de fuentes bibliográficas, seleccionadas de bases de datos en línea, siguiendo criterios de relevancia y confiabilidad, donde se identificaron empresas, principales actores, inversiones e inversionistas que forman parte del ecosistema, que resultó en el desarrollo de una aplicación denominada IO Player, que funciona como red social de aprendizaje.

Objetivo: Determinar la relación entre síndrome de burnout, ansiedad y depresión en trabajadores del área de la salud de un hospital de alta complejidad de Cúcuta en el año 2022. Metodología: Estudio de corte, con 285 participantes, profesionales en medicina general, médicos especialistas, enfermeras, auxiliares de enfermería, fisioterapeutas y camilleros. Se aplicó un cuestionario sociodemográfico, el inventario de Maslach de Burnout y la escala hospitalaria de ansiedad y depresión. Resultados: El 72,2 % de los casos de ansiedad obtuvo puntaje alto en agotamiento emocional; el 33,3 %, en despersonalización, y el 27,8 % tuvo puntuación baja en realización personal. Para depresión, el 83,5 % de los participantes presentaron puntuaciones altas en agotamiento emocional y el 66,7 % en despersonalización y realización personal. Los factores que aumentaron el riesgo de ansiedad fueron el agotamiento emocional (or = 5,64 ic = 3,45-9,17) y la baja realización personal (or = 0,42, ic= 0,23-0,66), mientras que para la depresión fueron el agotamiento emocional (or = 4,14, ic = 2,54-6,74) y la baja realización personal (or = 0,53, ic = 0,30-0,94). Conclusión: El agotamiento emocional estuvo relacionado con el riesgo de ansiedad y de la depresión. La realización personal fue un factor protector contra los síntomas de los trastornos emocionales. Este estudio permitió identificar que los ambientes hospitalarios laborales exigentes pueden afectar la salud mental del trabajador, por lo que se hace necesario plantear estrategias para reducir el riesgo y prevenir la aparición de enfermedades mentales.

Objetivo: Identificar intervenciones de educación para la salud que hayan demostrado mejoras en la salud visual y ocular de trabajadores usuarios de computadoras con Síndrome de Visión por Computador. Método: Revisión bibliográfica de artículos originales en español e inglés, publicados entre 2017 y junio de 2022 en las bases de datos PubMed, Scopus, MEDLINE (EBSCO), Redalyc y Ovid. Resultados: De 1.695 artículos, 11 cumplieron con el protocolo. De estos, el 90,90% se publicaron desde 2020 hasta junio de 2022 y la India tuvo el mayor número de publicaciones (27,27%). La mayoría de los estudios fueron experimentales o cuasi-experimentales (36,36%), y para la síntesis cualitativa se clasificaron en intervenciones educativas con tecnología 54,54% (n=6) y las que manejaban educación tradicional 45,45% (n=5). Conclusión: Se demostró que las intervenciones de educación en salud contribuyen a la mejora de la salud visual y ocular de los usuarios de computadora con Síndrome de Visión por Computador. Es necesario investigar y divulgar resultados sobre el tema, que contribuyan a los procesos de promoción de la salud visual y ocular, así como en la prevención del Síndrome de Visión por Computador en el ámbito laboral.

This research aims to determine the current conditions of geographical accessibility to and from healthcare centres in Manizales and Villamaría conurbation through the Enhanced two- step floating catchment area (E2SFCA) method, supported by geographic tools and socioeconomic assessments. The main result is that the average number of beds per 1000 inhabitants in low complexity systems is below the average defined for Colombia and Latin America, thus requiring greater attention in implementing beds to reach the required accessibility levels. These valuations allow concluding that the accessibility of healthcare institutions requires the use of significant calculation tools, such as the E2SFCA method, which has not had great applications within the Colombian territory.